PubMed Health⌕ Search

Biomedical subjects

D Romano

Publications and source records attributed to D Romano.

36 records · Page 2Linked to original sources
PubMed1988

Mapping of D4S98/S114/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4.

The dominant gene defect in Huntington's disease (HD) is linked to the DNA marker D4S10, near the telomere of the chromosome 4 short arm. Two other markers, D4S43 and D4S95, are closer, but still proximal to the HD gene in 4p16.3. We have characterized a new locus, D4S114, identified by cloning the end of a NotI fragment resolved by pulsed-field gel electrophoresis. D4S114 was localized distal to D4S43 and D4S95 by both physical and genetic mapping techniques. The "end"-clone overlaps a previously isolated NotI "linking" clone, and is within 150 kb of a second "linking" clone defining D4S113. Restriction fragment length polymorphisms for D4S113 and D4S114, one of which is identical to a SacI polymorphism detected by the anonymous probe pBS731B-C (D4S98), were typed for key crossovers in HD and reference pedigrees. The data support the locus order D4S10-(D4S43, D4S95)-D4S98/S114/S113-HD-telomere. The D4S98/S114/S113 cluster therefore represents the nearest cloned sequences to HD, and provides a valuable new point for launching directional cloning strategies to isolate and characterize this disease gene.

Animals↗
PubMed1980

Late radiographic changes after lumbar intervertebral disc operations involving hemilaminectomy and partial facetectomy.

We carried out a long term clinical and radiographic follow up (seven to twelve years) on seventy-one patients operated on for prolapsed lumbar disc using a hemilaminofacetectomy approach. The following conclusions were drawn: (1) radiographic deterioration at the disc space operated on varies according to its normality or otherwise at the time of operation; (2) late changes were less common at the L4-L5 space than at the L5-S1 space; (3) hemilaminofacetectomy at L4 had a more adverse effect on L5 than hemilaminofacetectomy of L5 had on L4; (4) in 10 per cent of our cases total of partial reconstruction of the remaining hemilamina was demonstrated by tomography.

Adult↗
PubMedDate not supplied

Coenzyme Q10 fetal plasma levels.

OBJECTIVE: This study aims at determining a cutoff value differentiating the fetal from the adult coenzyme Q10 (CoQ10) values and comparing substantial increases in CoQ10 plasma levels in fetuses with hypoxic hypoxia and nonimmune fetal hydrops. METHODS: We have selected 61 pregnancies and determined the CoQ10 levels in fetal and maternal samples obtained by cordocentesis. Our study included a control group and pregnancies with intrauterine growth retardation, Rh isoimmunization, nonimmune fetal hydrops, and fetal malformations. RESULTS: To differentiate the fetal from the adult values we have set 0.3 mg/ml as the cutoff value. The CoQ10 were higher only in fetuses with hypoxic hypoxia and nonimmune hydrops. CONCLUSION: Normal fetal CoQ10 plasma levels are lower than 0.3 mg/ml.

Coenzymes↗
PubMedDate not supplied

An experimental animal model of intestinal obstruction to simulate in utero therapy for jejunoileal atresia.

OBJECTIVE: To obtain 'intestinal atresia-like' conditions in the fetal lamb model to subsequently allow in utero surgical repair. METHODS: Six time-dated pregnant sheep underwent general anesthesia at 75 days of gestation (term 145 +/- 5 days). After maternal laparotomy and hysterotomy, the fetal abdomen was opened. Once the jejunoileal intestinal loop was identified, the mesenteric vessels were isolated, ligated, and sectioned in 2 fetuses, and in the remaining 5 fetuses the bowel loop was ligated. Two further fetuses were used as controls and underwent sole laparotomy. Of the group of 7 fetuses 2 were reoperated at 100-105 days of gestational age and underwent intestinal recanalization. Eight fetuses were delivered at term by cesarean section and the remaining 1 by spontaneous delivery. One newborn underwent neonatal entero-enteric anastomosis. RESULTS: 4 out of 6 fetuses survived, in utero intestinal or vascular ligation having provoked an 'intestinal atresia-like' picture. The animal operated at birth died. The 2 control fetuses and the 2 fetuses with in utero intestinal recanalization survived until term. CONCLUSION: The present study shows that in utero treatment of intestinal obstruction is possible in an experimental model.

Animals↗
PubMedDate not supplied

Double shunt in a case of fetal low-level obstructive uropathy.

This report describes a pregnant woman at 22 weeks of gestation examined for fetal bilateral dilated renal pelvis and oligohydramnios. Ultrasound evaluation confirmed the diagnosis of low-level obstructive uropathy. At 26 weeks of gestation, the increase in hydronephrosis prompted us to introduce a vesicoamnionic shunt. Because of unusual intraperitoneal dislocation of the shunt and an increase in ascites and hydronephrosis, we had to insert a peritoneoamnionic shunt at 30 weeks of gestation. The patient underwent cesarean section at 31 weeks for obstetric complications. The infant, at 15 months of age, showed mild renal failure.

Adult↗
PubMedDate not supplied

Hospital-at-Home for advanced cancer patients within the framework of the Bologna Eubiosia project: an evaluation.

AIMS AND BACKGROUND: An evaluation of the Bologna Hospital-at-Home (BHH) was undertaken to examine the following aspects: 1) median daily costs of the BHH; 2) delivery of medical services; 3) patient satisfaction with the care received and frequency of requests for transfer to the alternative setting. Delivery of services and patient's satisfaction in the BHH were compared with data collected for a traditional hospital (Ospedale Sant'Orsola Malpighi, Bologna--OSM). METHODS: Our analysis was performed as a cost analysis considering two periods of time in 1992 and 1993/94. Included were direct and indirect costs; no intangible costs were found. The patient's perspective was selected for the analysis. The observational study examining delivery of service and quality of life of patients admitted to the two care settings, BHH and OSM, considered patient's clinical history and an interview conducted by the evaluation team 6 weeks after admission to either facility. Data included patient's characteristics, quantity of diagnostic and therapeutic measures, circumstances of life, satisfaction with the care received, and intention for transfer to the alternative setting of nursing. The statistical significance of our assumption of comparable care intensity and better patient quality of life in the BHH was tested by the Pearson Chi-square test. RESULTS: A survey was carried out of 236 patients treated in the BHH or the OSM. The setting of assistance did not influence the provision of services. The time of "talking to the doctor" was notably higher for BHH than for OSM patients. The analysis of satisfaction showed that 98% of the surveyed BHH patients believed it matched the actual needs. The quality of life was considered to be reduced/bad in 67% of the OSM patients but in only 51% of BHH patients. An opinion was also requested with regard to transfer to the alternative setting of nursing: 47% of OSM patients judged BHH care would be better than traditional hospital. The median daily costs in BHH reached 118,789 Lire (range, 108,569-129,027 Lire, depending on performance status). CONCLUSIONS: Although the economic advantage of hospital-at-home care certainly is important, we would like to stress that better quality and dignity of life should be the main point supporting the idea of hospital-at-home care.

Cost-Benefit Analysis↗
PubMedDate not supplied

[Comparison of two methods to determine beta-lactoglobulin antibodies in children with cow's milk protein intolerance].

In the last years the evaluation of IgG against beta-lactoglobulin (beta LG-IgG) has been proposed as reliable test to diagnose Cow's Milk Protein Intolerance (CMPI). This test, associated with other diagnostic tools (such as eosinophilia, hemoccult, RAST, challenge, etc.) showed a good sensibility, but less specificity. In fact antibodies against beta-lactoglobulin were found in other gastrointestinal diseases (coeliac disease, inflammatory bowel diseases, cystic fibrosis, etc.). To determine the specificity of the test some Authors attributed great importance to the laboratory method (IFL, ELISA). They retained IFL more specific. In order to verify the behaviour of the two methods and their concordance we carried out a double bind determination of IgG against beta-lactoglobulin (beta LG-IgG) on serum samples from children affected by CMPI. For this study we chose 16 children, aged from 3 months and 6 years, suffering from CMPI of which 11 with gastrointestinal complaints and 5 from extraintestinal ones. All children were diagnosed on the basis of the following criteria: clinical picture, blood eosinophilia, positivity of hemoccult, amelioration after the withdrawal of cow's milk proteins from the diet, positivity of challenge test. All children at the time of the assessment assuming a diet containing cow's milk proteins. beta LG-IgG were measured using simultaneously immunofluorescent and micro-ELISA methods. The obtained data showed that 12 children (75%) had IgG versus beta-lactoglobulin in the serum. This result was obtained both with IFL and ELISA methods, showing a 100% of concordance.(ABSTRACT TRUNCATED AT 250 WORDS)

Child↗
PubMedDate not supplied

[Subrenal coarctation of the aorta. Presentation of a clinical case].

Coarctation of abdominal aorta constitutes a rare group of vascular abnormalities, including segmental stenoses and extended hypoplasia below the restriction. Usually hypertension is the only clinical evidence. The natural history of the surgically untreated disease foresees a decline of life expectancy; while surgical operation permit an almost complete "restitutio ad integrum". The Authors report a case of coarctation of the abdominal aorta come to their observation whose particularly was determined by the absence of high blood pressure, the aortic stenoses being located under the renal arteries.

Aorta, Abdominal↗
PubMedDate not supplied

[Cisapride efficacy in gastroesophageal reflux in children].

In the last years gastroesophageal reflux disease received more attentions, due to an improving in diagnostic techniques. Motility disorders, such as reduced competence of lower esophageal sphincter, motor esophageal disorders, delayed gastric emptying are important factors in the pathogenesis of the disease. Therefore therapy using prokinetic agents has been considered useful. A variety of drugs such as bethanecol, metoclopramide and domperidone have been used. There are conflicting report on the effects of these drugs and it should also be emphasized that they are not devoid of side effects related to dopamine antagonism. Recently cisapride, prokinetic agent which acts through facilitation of acetylcholine release, has been considered effective and well tolerate drug for the treatment of gastroesophageal reflux disease. In this view we investigated the effects of oral administration of cisapride in 12 children (age range 3-40 months), 7 females and 5 males, suffering from gastroesophageal reflux disease diagnosed on the bases of: clinic criteria, barium swallow radiological examination, 24-hour intraesophageal pH monitoring. After diagnosis a treatment with cisapride (1 mg/kg/die) before feedings for 8 weeks was started in all children. At the end of the trial clinical assessment and 24-hour intraesophageal pH test were performed. Clinical assessment was determined through weight, length and a clinical score calculated using the following parameters: regurgitation, vomiting, irritability, nocturnal weeping, meteorism, respiratory complaints. The total score was evaluated at diagnosis and during the follow-up (1st, 2nd, 4th and 8th week).(ABSTRACT TRUNCATED AT 250 WORDS)

Child, Preschool↗
PubMedDate not supplied

[Duplex scanner diagnosis of complete extracranial carotid artery obstruction: possibilities and limitations].

The authors enhance the current importance of the hemodynamic evaluation of the vascular carotid territory by means of Doppler-CV although the great development of the "real time" ultra sonographic imaging. Combined US/Doppler-CV technique is really useful in differential diagnosis of the severe obstructive disease of extracranial carotid arteries. The authors report the possibilities of pitfalls in diagnosis due to the limitation of devices employed or to the frequent anatomical variability featured by examination of severe obstruction of vascular carotid territory.

Angiography↗